Prenatal diagnosis of pentalogy of Cantrell in three cases, two with craniorachischisis.

In this report, we describe 3 cases of pentalogy of Cantrell diagnosed prenatally with sonography. All 3 fetuses had an omphalocele and ectopia cordis; 2 of them also had craniorachischisis, in which the open cranial defect (anencephaly or exencephaly) is continuous with the completely open spine (spinal dysraphism). The association of the pentalogy of Cantrell with exencephaly is rare, and to our knowledge, the association of this syndrome with craniorachischisis has not been reported previously. In addition, 2 of our cases had clubfoot, and 1 of them also had clubhand, neither of which has been reported previously in association with the pentalogy of Cantrell. Finally, polyhydramnios, which occurred in 2 of our cases, has been reported to occur in association with that syndrome in only 1 previous case. We believe that sonographers should be aware that these anomalies may occur simultaneously with the classic anomalies of the pentalogy of Cantrell.

Perinatal outcomes of twin pregnancies discordant for major fetal anomalies.

OBJECTIVE: The aim of this study was to determine perinatal outcomes of twin pregnancies discordant for a major fetal anomaly and to compare with twins without anomaly. METHODS: All twin pregnancies admitted or referred to the maternal-fetal unit were prospectively entered into a computer database. Chorionicity, fetal anomaly, mean gestational age at delivery, birth weight and perinatal survival rate were reviewed. MAIN OUTCOME MEASURES: Mean gestational age at delivery, birth weight and perinatal survival rate of twins with and without anomaly. RESULTS: There were 48 cases of monochorionic diamniotic (MCDA), 2 cases of monochorionic monoamniotic (MCMA) and 217 twins with dichorionic (DC) placentation. Out of 267 twin pregnancies, there were 17 (6.3%) twins with fetal anomaly. Twins discordant for a major fetal anomaly were diagnosed in 13 cases (4.8%). We observed 3 cases with MCDA and 10 cases with DC placentation and the incidence of discordance for a major fetal anomaly as 4.6% (10/217) in DC and 6.0% (3/50) in MC twin pregnancies. We identified 8 cases (62%) with craniospinal, 2 (15%) with gastrointestinal, 2 (15%) with urinary system, and 1 case (8%) with both craniospinal and gastrointestinal anomalies. There were significant differences between the normal co-twin of the major anomaly group (n = 13) and twins without anomaly group (n = 235) in mean gestational age at delivery (32 vs. 34 weeks; p = 0.029), mean birth weight (1,640 vs. 2,030 g; p = 0.022) and perinatal survival rate (69.2 vs. 91.1%; p = 0.018), respectively. CONCLUSION: The presence of a fetus with a major anomaly in a twin gestation increases the risk of preterm delivery, low birth weight and perinatal mortality of the normal co-twin.

Prenatal diagnosis of 13q-syndrome in a fetus with Dandy-Walker malformation.

BACKGROUND: Partial deletion of the long arm of the chromosome 13 is a rare chromosomal aberration and may present with microcephaly, colobomata, microphthalmia, distal limb and digital anomalies, cardiac defects, brain and urogenital malformations, anal atresia and growth restriction. CASE: We report such a case in 25th week of gestation referred for sonographic examination which revealed growth restriction, microcephaly, Dandy-Walker malformation, right microphthalmia, micrognathia, marked nuchal edema, four fingers-oligodactyly in feet and in hands with thumb aplasia and ambiguous genitalia. Chromosome analysis identified chromosome 13q deletion [46 XY del (13) (13q31.2/q32.1 --> qter)]. Postmortem examination confirmed prenatal findings and showed aniridia, low-set ears, cryptorchidism, and anal atresia. CONCLUSION: Detection of Dandy-Walker malformation, microphthalmia, oligodactyly with thumb aplasia and growth restriction during prenatal ultrasonography should be a reminder of deletion of chromosome 13q and warrant cytogenetic analysis.

Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for congenital cystic adenomatoid malformation of the lung.

BACKGROUND: Spontaneous monochorionic triamniotic pregnancy is rare and is at increased risk for pregnancy complications. The presence of an anomalous fetus further complicates the management. CASE PRESENTATION: We present a case of monochorionic triamniotic triplet pregnancy diagnosed at 15 weeks of gestation with one fetus having developed a multicystic lung lesion, suggestive of congenital cystic adenomatoid malformation (CCAM). At 24 weeks, the largest cyst measured 10 mm in diameter. We managed the pregnancy conservatively and delivered three live male fetuses with birth weights 1560 g, 1580 g and 1590 g at 35 weeks of gestation. Two newborns were admitted to the neonatal intensive care unit with respiratory distress, the third one died due to sepsis 7 days postpartum. One of the newborns was discharged healthy at 24 days postpartum. The newborn with CCAM developed a pneumothorax on the right side, recovered after treatment, and was discharged after one month. Computerized tomography (CT) of the infant at 3 months demonstrated two cystic lesions in the middle lobe of the right lung measuring 25 mm and 15 mm. A repeat CT of the infant at 6 months showed a 30 mm solitary cystic mass. CONCLUSION: Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for CCAM, present rarely and can be managed conservatively. These findings may help in decision making and counselling of parents.

Successful intrauterine treatment with alcohol ablation in a case of acardiac twin pregnancy.

Acardiac twinning is a rare obstetric condition unique to monochorionic twin gestation and the pump twin has high perinatal mortality. We report an acardiac twin pregnancy, in which the pump twin presented with intrauterine growth restriction and oligohydramnios, and grossly hydropic acardiac fetus measured 12 x 14 x 18 cm, and with no cardiac activity at 27 weeks of gestation. We treated the acardiac fetus with 1 ml alcohol ablation in utero, and delivered a live male baby weighing 1750 g at 36 weeks' gestation.

Perinatal outcomes in severe preeclampsia-eclampsia with and without HELLP syndrome.

OBJECTIVE: Our purpose was to find out and compare perinatal outcomes in pregnancies complicated by severe preeclampsia-eclampsia with and without HELLP syndrome. METHODS: Clinical and laboratory findings, and perinatal-neonatal outcomes of all pregnants with severe preeclampsia, eclampsia and HELLP have been prospectively recorded. Results were compared by means of Student's t test, chi2 analysis and Fisher's exact test as appropriate. RESULTS: Among 367 consecutive severe preeclampsia, 106 (29%) had HELLP syndrome, 261 (71%) had severe preeclampsia and eclampsia. Mean gestational age and birth weight at delivery in severe preeclampsia without HELLP syndrome and in HELLP syndrome were 34.1 +/- 6.1 vs. 33.0 +/- 5.8 weeks (p = 0.119) and 1,886 +/- 764 vs. 1,724 +/- 776 g (p = 0.063), respectively. Comparing overall fetal mortality (4.6 vs. 10.3%, p = 0.009) and perinatal mortality (8.0% vs. 16.8%, p = 0.026) in severe preeclampsia-eclampsia and HELLP syndrome, respectively, there were statistically significant differences. But when analyses were performed according to gestational age before and after 32nd gestational week, the difference of perinatal mortality between the two groups was non-significant (p = 0.644 and p = 0.250), suggesting borderline difference. The most common contributing factor for fetal death after 32nd week was due to abruptio placenta without prenatal follow-up. Neonatal morbidity and neonatal mortality (4.8 vs. 6.3%, p = 0.905) in severe preeclampsia-eclampsia and HELLP syndrome respectively were similar and the difference was statistically nonsignificant. CONCLUSIONS: Perinatal mortality and neonatal morbidity-mortality according to gestational age before and after the 32nd week were similar in HELLP syndrome compared with severe preeclampsia-eclampsia without HELLP but overall fetal mortality was higher in HELLP syndrome with no regular prenatal care.

Prenatal sonographic features of esophageal and ileal duplications at 18 weeks of gestation.

We present a case of esophageal and ileal duplications at 18 weeks of gestation. Transabdominal ultrasonography of the fetus showed multiple cystic masses of 12 to 17 mm in diameter and continuity with each other in the abdomen and a unilocular cystic mass of 15 mm in diameter in the posterior mediastinum. The cystic mass filled the abdominal cavity with signs of intestinal obstruction. The thoracic cystic mass was tubular, sausage-shaped and behind the heart, which was displaced to the antero-lateral wall of the chest. Amniocentesis revealed a normal fetal karyotype 46,XY. Peristaltic movements in the abdominal cystic structure at 30 weeks of gestation suggested dilated intestinal loops. Follow-up ultrasound examinations showed polyhydramnios with amniotic fluid index of 30 cm and gradual enlargement of the cystic structures to 50 mm in the abdomen and 30 mm in the posterior mediastinum at 38 weeks of gestation. A male infant weighing 3900 g was delivered. Postnatal ultrasonographic examination and the findings of magnetic resonance imaging also suggested enteric duplication cysts. Prenatal diagnosis allowed prompt neonatal evaluation and surgical treatment of the esophageal and the ileal duplications, which was confirmed by pathological examination.

Maternal and fetal outcomes in HELLP syndrome complicated with acute renal failure.

OBJECTIVE: This study reviews maternal and fetal outcomes in HELLP syndrome complicated with acute renal failure (ARF), and compares clinical and laboratory findings of the cases of HELLP syndrome that did not develop ARF. MATERIALS AND METHODS: All pregnant women with hypertensive disorders admitted or referred to the maternal and fetal unit were recorded into a perinatal database between January 15, 2002 and September 15, 2003. During the study period, out of 615 cases of hypertensive pregnancy, we followed and delivered 347 cases of severe preeclampsia, of them 132 cases were diagnosed as HELLP syndrome. ARF was defined as creatinine level > or =1.2 mg/dL and/or oliguria <400 mL/24 hr. The cases were divided into three groups on the basis of the highest creatinine level recorded during hospitalization: creatinine <1.2 mg/dL, creatinine > or =1.2 to 2.0 mg/dL, and creatinine > or =2.0 mg/dL. Statistical comparisons were performed by Student t test, X2 analysis, and Fisher's Exact test as appropriate. The value of P < .05 was considered significant. RESULTS: ARF developed in 8.9% (n:31) of severe preeclampsia (n:347); of them, 15 (4.3%) cases were nonoliguric, and all had mildly elevated creatinine levels between 1.2 and 1.9 mg/dL. Moderately elevated creatinine levels were 2 to 3.9 mg/dL in 10 cases, and severely elevated creatinine levels were 4 to 8.4 mg/dL in 6 cases, for a total of 16 (4.6%) cases; creatinine levels were > or =2.0 mg/dL (range: 2.0-8.4 mg/dL). HELLP syndrome was the most frequent cause of ARF, 64.5% (n:20/31), and was observed in 15% (n:20) of 132 cases of HELLP syndrome. Fourteen (88%) of 16 cases that had oliguria and creatinine levels > or =2 mg/dL were detected in HELLP syndrome (n:14/132; 10.6%). Major maternal complications in HELLP syndrome with ARF and creatinine level > or =2 mg/dL in the study group were abruptio placentae (42.8%; n:6/14), incisional hematoma (21%; n:3/14), pulmonary edema (14%; n:2/14), cesarean hysterectomy (7%; n: 1/14), and dialysis (50%; n:7/14). There was no maternal mortality. All patients complicated with ARF were discharged without renal impairment. Perinatal mortality was 26.1% in the cases of HELLP syndrome with ARF-creatinine > or =1.2 mg/dL and further increased to 37.5% when creatinine levels were above 2.0 mg/dL, compared with 11.8% in the cases having creatinine <2.0 mg/dL, and the difference was statistically significant (p:.007). CONCLUSIONS: The most contributing factors leading to ARF in HELLP syndrome were abruptio placentae and HELLP syndrome complicated with ARF, particularly, oliguric ARF has relatively higher maternal complications and perinatal mortality.

Neonatal outcome in pregnancies after preterm delivery for HELLP syndrome.

OBJECTIVE: To compare neonatal outcome after preterm delivery of infants where pregnancy had been complicated by the HELLP syndrome. STUDY DESIGN: The maternal and neonatal charts of 475 consecutive pregnancies complicated by hypertensive disorders at our perinatal unit were reviewed. The HELLP syndrome was defined by previously published laboratory criteria. 93 women fulfilled the criteria and constituted our HELLP syndrome study group. 188 normotensive patients who were delivered because of preterm labor comprised the control group. Results were compared by means of chi2 analysis and Student's t test where appropriate. RESULTS: There were 518 pregnancies complicated by hypertensive disorders and 93 by HELLP syndrome. The incidence of HELLP syndrome among women with severe preeclampsia was 19.5%. We found a significant difference in the incidence of intrauterine growth restriction (61.2 vs. 5.8%, p < 0.0001), intrauterine fetal death (13.9 vs. 6.9%, p = 0.035), abruptio placenta (13.9 vs. 2.6%, p = 0.001), and fetal distress (35.4 vs. 12.2%, p < 0.0001) between the two groups. There were no significant differences in complications (respiratory distress syndrome, intraventricular hemorrhage, necrotizing enterocolitis and sepsis) between the HELLP syndrome group and controls. However, the neonatal death rate and the need for mechanical ventilation and neonatal intensive care were greater in the HELLP syndrome group. CONCLUSIONS: Our study suggests an increased mortality and morbidity in newborns of mothers complicated with HELLP syndrome that can be partly attributed to increased rates of intrauterine growth restriction and fetal distress, particularly beyond 32 weeks of gestation.

The outcome of twin pregnancies complicated by single fetal death after 20 weeks of gestation.

A retrospective study involving 972 twin births was conducted to evaluate the maternal and fetal outcomes of twin pregnancies complicated by single fetal death. The incidence of single fetal death in twin pregnancies after 20 weeks was 3.3%. Preterm birth rates for 37 and 32 gestational weeks were 81.3% and 41.6% respectively. The median interval between the diagnosis of fetal death and the delivery was 11 days (range 1-27 days). Eighteen (56%) infants were delivered by cesarean and 14 (43%) vaginally. Twin-twin transfusion syndrome (TTTS) was the cause of single fetal death in 8 of 32 twin pregnancies (25%). Ten of the surviving co-twins were lost in the neonatal period (31.3%) and half of those neonatal deaths were due to TTTS. TTTS is the major contributor for perinatal mortality in same-sex twins complicated by single fetal death. The death of one twin in utero should not be the only indication for preterm delivery, and in case of severe prematurity with a stable intrauterine environment; expectant management may be advisable until fetal lung maturation ensues.

Natural history of 11 cases of twin-twin transfusion syndrome without intervention.

The natural history of 11 cases of twin-twin transfusion syndrome (TTTS) in monochorionic diamniotic (MCDA) twin pregnancies has been reviewed. Seven cases before 28 weeks and four pregnancies after 28 weeks had been followed up without intervention. Eight cases had premature uterine contractions. All seven pregnancies before 28 weeks aborted, leading to a 100% mortality rate. After 28 weeks all mothers delivered live births. The diagnosis of TTTS before 28 weeks, and with premature uterine contraction, seems to be a poor prognostic sign.